| meta-analysis | Q815382 |
| scholarly article | Q13442814 |
| P356 | DOI | 10.1038/JHG.2013.77 |
| P2888 | exact match | https://scigraph.springernature.com/pub.10.1038/jhg.2013.77 |
| P698 | PubMed publication ID | 23884151 |
| P5875 | ResearchGate publication ID | 251878132 |
| P2093 | author name string | Subramaniam Ganesh | |
| Rashmi Parihar | |||
| P2860 | cites work | Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome | Q60453026 |
| Differential subcellular localization of the RI and RII Na+ channel subtypes in central neurons | Q69366003 | ||
| Structure and function of voltage-gated ion channels | Q71612070 | ||
| Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy | Q79215682 | ||
| Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients | Q79639496 | ||
| A screening test for the prediction of Dravet syndrome before one year of age | Q80189870 | ||
| Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation | Q80345827 | ||
| The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy | Q81325064 | ||
| SCN1A mutation analysis in myoclonic astatic epilepsy and severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures | Q81828528 | ||
| Targeted next generation sequencing as a diagnostic tool in epileptic disorders | Q84182666 | ||
| Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2 | Q22253421 | ||
| De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy | Q24533495 | ||
| A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy | Q24536363 | ||
| Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures | Q24544180 | ||
| From ionic currents to molecular mechanisms: the structure and function of voltage-gated sodium channels | Q28143653 | ||
| Functional effects of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2 | Q28188391 | ||
| Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A | Q28191292 | ||
| Generalized epilepsy with febrile seizures plus type 2 mutation W1204R alters voltage-dependent gating of Na(v)1.1 sodium channels | Q28204139 | ||
| Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures | Q28207332 | ||
| Molecular basis of an inherited epilepsy | Q28207595 | ||
| Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS+? | Q51765056 | ||
| A long-term follow-up study of Dravet syndrome up to adulthood. | Q51858326 | ||
| Rasmussen encephalitis associated with SCN 1 A mutation. | Q53451733 | ||
| Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy. | Q53592417 | ||
| Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients. | Q54590725 | ||
| Physicochemical property changes of amino acid residues that accompany missense mutations in SCN1A affect epilepsy phenotype severity | Q56772018 | ||
| Early clinical features in Dravet syndrome patients with and without SCN1A mutations | Q57529905 | ||
| De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin | Q57905641 | ||
| Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS) | Q28208131 | ||
| Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB) | Q28240097 | ||
| SCN1A mutations and epilepsy | Q28249270 | ||
| A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction | Q28291611 | ||
| Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy | Q28295604 | ||
| Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy | Q28585126 | ||
| Nav1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation | Q28587835 | ||
| Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion | Q29616531 | ||
| Heterozygous mutations of the voltage-gated sodium channel SCN8A are associated with spike-wave discharges and absence epilepsy in mice | Q30486948 | ||
| Altered function of the SCN1A voltage-gated sodium channel leads to gamma-aminobutyric acid-ergic (GABAergic) interneuron abnormalities | Q30493834 | ||
| Neuronal voltage-gated ion channels are genetic modifiers of generalized epilepsy with febrile seizures plus | Q30498134 | ||
| Sudden unexpected death in a mouse model of Dravet syndrome | Q30538288 | ||
| Preferential inactivation of Scn1a in parvalbumin interneurons increases seizure susceptibility | Q30542513 | ||
| A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome | Q33504524 | ||
| Genetic predictors of the maximum doses patients receive during clinical use of the anti-epileptic drugs carbamazepine and phenytoin | Q33936573 | ||
| Focal seizures due to chronic localized encephalitis | Q34244319 | ||
| Lennox-Gastaut syndrome (childhood epileptic encephalopathy). | Q34291322 | ||
| Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome | Q34359072 | ||
| Tissue-specific expression of the RI and RII sodium channel subtypes | Q34373977 | ||
| Clinical and molecular genetics of myoclonic-astatic epilepsy and severe myoclonic epilepsy in infancy (Dravet syndrome). | Q34432842 | ||
| Novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy | Q34971951 | ||
| De novo SCN1A mutations in migrating partial seizures of infancy | Q35119591 | ||
| Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology | Q35275382 | ||
| Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome | Q35375026 | ||
| Na(V)1.1 channels are critical for intercellular communication in the suprachiasmatic nucleus and for normal circadian rhythms | Q35750926 | ||
| Nova2 interacts with a cis-acting polymorphism to influence the proportions of drug-responsive splice variants of SCN1A. | Q35752646 | ||
| Evolutionary convergence of alternative splicing in ion channels | Q35752648 | ||
| Sodium channel mutations in epilepsy and other neurological disorders | Q36216288 | ||
| Specific deletion of NaV1.1 sodium channels in inhibitory interneurons causes seizures and premature death in a mouse model of Dravet syndrome | Q36221618 | ||
| Autistic-like behaviour in Scn1a+/- mice and rescue by enhanced GABA-mediated neurotransmission. | Q36252621 | ||
| Nontruncating SCN1A mutations associated with severe myoclonic epilepsy of infancy impair cell surface expression | Q36451955 | ||
| When should clinicians order genetic testing for Dravet syndrome? | Q36460682 | ||
| A catalog of SCN1A variants | Q37274545 | ||
| Debate: Does genetic information in humans help us treat patients? PRO--genetic information in humans helps us treat patients. CON--genetic information does not help at all. | Q37352124 | ||
| A functional null mutation of SCN1B in a patient with Dravet syndrome | Q37359854 | ||
| De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies | Q37368348 | ||
| NaV1.1 channels and epilepsy | Q37701079 | ||
| Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects | Q37721012 | ||
| Sodium channel SCN1A and epilepsy: mutations and mechanisms | Q37787324 | ||
| Dravet syndrome: the long-term outcome | Q37861264 | ||
| Molecular and cellular basis: insights from experimental models of Dravet syndrome | Q37861271 | ||
| Overall management of patients with Dravet syndrome | Q37866833 | ||
| Developmental programming of early brain and behaviour development and mental health: a conceptual framework | Q37939210 | ||
| Clinical spectrum of SCN2A mutations. | Q37949707 | ||
| Different degrees of loss of function between GEFS+ and SMEI Nav 1.1 missense mutants at the same residue induced by rescuable folding defects | Q39360713 | ||
| Pure haploinsufficiency for Dravet syndrome Na(V)1.1 (SCN1A) sodium channel truncating mutations | Q39431641 | ||
| SCN1A IVS5N+5 polymorphism and response to sodium valproate: a multicenter study | Q39538104 | ||
| The GABRG2 nonsense mutation, Q40X, associated with Dravet syndrome activated NMD and generated a truncated subunit that was partially rescued by aminoglycoside-induced stop codon read-through. | Q39593426 | ||
| Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome | Q39598983 | ||
| Regulation of persistent Na current by interactions between beta subunits of voltage-gated Na channels | Q39881948 | ||
| Identification of the promoter region and the 5'-untranslated exons of the human voltage-gated sodium channel Nav1.1 gene (SCN1A) and enhancement of gene expression by the 5'-untranslated exons | Q39957360 | ||
| Variable epilepsy phenotypes associated with a familial intragenic deletion of the SCN1A gene | Q40338435 | ||
| Auxiliary subunits of voltage-gated ion channels | Q40390112 | ||
| Sodium channel heterologous expression in mammalian cells and the role of the endogenous beta1-subunits | Q40680387 | ||
| A sodium channel mutation causing epilepsy in man exhibits subtle defects in fast inactivation and activation in vitro | Q40837265 | ||
| A BAC transgenic mouse model reveals neuron subtype-specific effects of a Generalized Epilepsy with Febrile Seizures Plus (GEFS+) mutation | Q42540895 | ||
| Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome. | Q42658858 | ||
| Mutational analysis of GABRG2 in a Japanese cohort with childhood epilepsies. | Q43059162 | ||
| Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome. | Q43270703 | ||
| Genotype-phenotype associations in SCN1A-related epilepsies | Q43484474 | ||
| Autism in Dravet syndrome: prevalence, features, and relationship to the clinical characteristics of epilepsy and mental retardation | Q43528864 | ||
| CACNA1A variants may modify the epileptic phenotype of Dravet syndrome. | Q43851698 | ||
| Mouse with Nav1.1 haploinsufficiency, a model for Dravet syndrome, exhibits lowered sociability and learning impairment | Q44066884 | ||
| Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms. | Q44592858 | ||
| A functional polymorphism in the SCN1A gene does not influence antiepileptic drug responsiveness in Italian patients with focal epilepsy | Q45171680 | ||
| Role of the amino and carboxy termini in isoform-specific sodium channel variation | Q46530230 | ||
| SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis. | Q47923406 | ||
| Type I and type II Na(+) channel alpha-subunit polypeptides exhibit distinct spatial and temporal patterning, and association with auxiliary subunits in rat brain | Q48140249 | ||
| Deletions of SCN1A 5' genomic region with promoter activity in Dravet syndrome. | Q48183901 | ||
| Is phenotype difference in severe myoclonic epilepsy in infancy related to SCN1A mutations? | Q48197553 | ||
| The spectrum of SCN1A-related infantile epileptic encephalopathies | Q48249670 | ||
| A homozygous mutation of voltage-gated sodium channel β(I) gene SCN1B in a patient with Dravet syndrome | Q48297410 | ||
| Severe infantile epilepsies: molecular genetics challenge clinical classification | Q48395883 | ||
| The natural history of Rasmussen's encephalitis. | Q48536481 | ||
| The SCN1A variant database: a novel research and diagnostic tool. | Q48669854 | ||
| A theory of the origin of cerebral asymmetry: epigenetic variation superimposed on a fixed right-shift. | Q48704248 | ||
| Epidemiology of Severe Myoclonic Epilepsy of Infancy | Q48948719 | ||
| Nav1.1 is predominantly expressed in nodes of Ranvier and axon initial segments. | Q49092166 | ||
| The clinical utility of an SCN1A genetic diagnosis in infantile-onset epilepsy. | Q50116440 | ||
| P433 | issue | 9 | |
| P304 | page(s) | 573-580 | |
| P577 | publication date | 2013-07-25 | |
| P1433 | published in | Journal of Human Genetics | Q6295302 |
| P1476 | title | The SCN1A gene variants and epileptic encephalopathies | |
| P478 | volume | 58 |
| Q55060113 | A mutation in GABRB3 associated with Dravet syndrome. |
| Q38828065 | Animal models of monogenic migraine |
| Q38959338 | Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations |
| Q64084492 | Disordered breathing in a mouse model of Dravet syndrome |
| Q28082964 | Drosophila sodium channel mutations: Contributions to seizure-susceptibility |
| Q35962539 | Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes |
| Q37579472 | Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing |
| Q33737782 | Genome annotation for clinical genomic diagnostics: strengths and weaknesses |
| Q92392357 | Influence of common SCN1A promoter variants on the severity of SCN1A-related phenotypes |
| Q57256819 | Inhibitory effects of cannabidiol on voltage-dependent sodium currents |
| Q97679018 | Molecular diagnosis of epileptic encephalopathy of the first year of life applying a customized gene panel in a group of Argentinean patients |
| Q92046696 | Mouse Models of Familial Hemiplegic Migraine for Studying Migraine Pathophysiology |
| Q90064889 | NaV1.1 and NaV1.6 selective compounds reduce the behavior phenotype and epileptiform activity in a novel zebrafish model for Dravet Syndrome |
| Q91792169 | Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A |
| Q37591772 | SCN1A Gene Mutation and Adaptive Functioning in 18 Vietnamese Children with Dravet Syndrome. |
| Q58801118 | Selective Na1.1 activation rescues Dravet syndrome mice from seizures and premature death |
| Q47658294 | Severe peri-ictal respiratory dysfunction is common in Dravet syndrome. |
| Q29147383 | Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy |
| Q34496558 | Somatic mutation in single human neurons tracks developmental and transcriptional history |
| Q37110729 | Synergistic association of STX1A and VAMP2 with cryptogenic epilepsy in North Indian population |
| Q88374864 | The genetics and molecular biology of fever-associated seizures or epilepsy |
| Q30836081 | The sorting receptor Rer1 controls Purkinje cell function via voltage gated sodium channels |
| Q92003234 | Trafficking mechanisms underlying Nav channel subcellular localization in neurons |
| Q29994709 | Unexpected Efficacy of a Novel Sodium Channel Modulator in Dravet Syndrome |
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